Publications by authors named "M Caulfield"
Background: Protoacoustics has emerged as a promising real-time range measurement method for proton therapy. Optical hydrophones (OHs) are considered suitable to detect protoacoustic waves owing to their ultracompact size and high sensitivity. In our previous research, we demonstrated that the time-of-arrival (TOA) measured by an OH showed good agreement with the simulated ground truth in a homogeneous medium.
View Article and Find Full Text PDFPurpose: As part of the 100,000 Genomes Project, we set out to assess the potential viability and clinical impact of reporting genetic variants associated with drug-induced toxicity for patients with cancer recruited for whole-genome sequencing (WGS) as part of a genomic medicine service.
Methods: Germline WGS from 76,805 participants was analyzed for pharmacogenetic (PGx) variants in four genes (, , , ) associated with toxicity induced by five drugs used in cancer treatment (capecitabine, fluorouracil, mercaptopurine, thioguanine, irinotecan). Linking genomic data with prescribing and hospital incidence records, a phenome-wide association study (PheWAS) was performed to identify whether phenotypes indicative of adverse drug reactions (ADRs) were enriched in drug-exposed individuals with the relevant PGx variants.
Article Synopsis
- Repeat expansion disorders (REDs) are mostly neurological diseases affecting about 1 in 3,000 people worldwide, but true prevalence may be underestimated due to varied symptoms and geographic factors.
- Analysis of genetic data from over 82,000 individuals indicates that the actual frequency of REDs is about 1 in 283, suggesting many cases go undiagnosed.
- Most REDs are found across diverse populations, countering the idea that some are limited to specific ethnic groups, which has important implications for health care and genetic counseling.
Article Synopsis
- Genome-wide association studies have found numerous genetic loci linked to glycemic traits, but connecting these loci to specific genes and biological pathways remains a challenge.
- Researchers conducted meta-analyses of exome-array studies across four glycemic traits, analyzing data from over 144,000 participants, which led to the identification of coding variant associations in more than 60 genes.
- The study revealed significant pathways related to insulin secretion, zinc transport, and fatty acid metabolism, enhancing understanding of glycemic regulation and making data available for further research.